Individual #00004273

Reference Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
Ethnic origin Chinese
Remarks -
Panel size 1
Diseases RTT
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000004273 ? ? CDKL5 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Exon     

DNA change (cDNA)     

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Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
X Unknown ./. g.18622155delC Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) CDKL5_000048 - Y Yang CDKL5 12 NM_003159.2:c.1111delC r.(?) p.(Ala372Leufs*121) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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